Exploring which gene alterations are found in acral melanoma in Asian people. (1st May 2020)

• Record Type: Journal Article
• Authors: Sheen, Y.‐S.; Tan, K.‐T.; Tse, K.‐P.; Liao, Y.‐H.; Lin, M.‐H.; Chen, J.‐S.; Liau, J.‐Y.; Tseng, Y.‐J.; Lee, C.‐H.; Hong, C.‐H.; Liao, J.‐B.; Chang, H.‐T.; Chu, C.‐Y.
• Is Part Of: British journal of dermatology. Volume 182:Number 5(2020)
• Page Start: e165
• Page End: e165
• Publication Date: 2020-05-01
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.18991
• Languages: English
• ISSNs: 0007-0963

Abstract

Summary: Melanoma is a life‐threatening type of skin cancer. It affected about 351, 800 people worldwide in 2015. Acral melanoma occurs on non‐hairy acral skin (palms, soles, and nail beds) and is not thought to be linked to ultraviolet radiation (e.g. from the sun), unlike other melanoma types (non‐acral melanoma). This study, conducted by researchers based in Taiwan, aimed to find out which mutations (abnormalities) in certain genes underly acral melanoma and non‐acral melanoma in Asians. This is known as 'genomic profiling', and allows scientists to find out about the genetic information related to a person or cell type and the way genes interact with each other. This profiling can be done using a type of genetic testing called next‐generation sequencing. The authors performed comprehensive genomic profiling of 409 cancer‐associated genes in 66 melanomas, comprised of 45 acral melanomas and 21 non‐acral melanomas. The authors found that the non‐acral melanomas showed a significantly higher frequency of a type of mutation called BRAF mutations than the acral melanomas. Meanwhile, the frequencies of other alterations ( NRAS/KRAS mutations, cell cycle aberrations, anti‐apoptosis pathway alterations, and receptor tyrosine kinase gene gains) were significantly higher in the acral melanomas. Ulceration, in which the skin on the surface of the melanoma breaks down, was found at significantly higher rates in the acral melanomas and non‐acral melanomas with cell cycle aberrations and receptor tyrosine kinase gene gains. Notably, cell cycle aberrations and anti‐apoptosis pathway alterations were associated with a lower rate of survival in all 66 melanoma patients, and especially in the 45 acral melanoma patients. This study strengthens our understanding of the patterns and repercussions of gene mutations in acral and non‐acral melanoma in Asians. The study revealed that, in addition to treatments called immunotherapies, acral melanoma patients might benefit from treatments that target NRAS/KRAS mutations, cell cycle aberrations, receptor tyrosine kinase gains, and anti‐apoptosis pathways, a possibility which warrants study in the future. This is a summary of the study: Genetic alterations in primary melanoma in Taiwan.